Generation of a human induced pluripotent stem cell line (SMUSHi001-A) from a patient with 46, XX male sex reversal syndrome carrying the SRY gene

Autor: Rui Yan, Suihan Wu, Wenxuan Wang, Meng Chu, Pengyu Liu
Jazyk: angličtina
Rok vydání: 2021
Předmět:
Zdroj: Stem Cell Research, Vol 54, Iss , Pp 102397- (2021)
Druh dokumentu: article
ISSN: 1873-5061
DOI: 10.1016/j.scr.2021.102397
Popis: The 46, XX male sex reversal syndrome (SRS) is a rare disease with a gender dysplasia phenotype. Scientists concur that SRS is associated with translocation of the sex-determining region Y gene (SRY). We obtained peripheral blood mononuclear cells (PBMCs)from an 18-year-old male with SRS to generate an induced pluripotent stem cell (iPSC) line (SMUSHi001-A). Karyotyping analysis of the patient PBMCs revealed a normal 46, XX karyotype carrying the SRY gene. Pluripotent markers were successfully detected in SMUSHi001-A which can be differentiated into three germ layers in vitro. This cell line will provide a cell model for exploring the pathogenesis and potential therapeutic methods of SRS.
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